Embryonal rhabdomyosarcoma in a patient with a germline CBL pathogenic variant.
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DOI: 10.1016/j.cancergen.2018.12.006
Abstract: Germline pathogenic variants in CBL are associated with an autosomal dominant RASopathy and an increased risk for malignancies, particularly juvenile myelomonocytic leukemia. Herein, we describe a patient with clinical features of a Noonan-spectrum disorder who… read more here.
Keywords: germline cbl; pathogenic variant; embryonal rhabdomyosarcoma; germline ... See more keywords